N. Sevenet

O. Delattre, N. Sevenet, Hwei Yee Lee, 2002, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

O. Delattre, N. Sevenet, C. Jeanpierre, 2012, European Journal of Human Genetics.

Cutaneous epidermal cysts as a presentation of gorlin syndrome.

N. Sevenet, T. Jouary, D. Lacombe, 2009, Archives of dermatology.

Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity.

P. Jeggo, N. Sevenet, J. Deleuze, 2018, International journal of radiation oncology, biology, physics.

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

P. Varlet, O. Delattre, S. Puget, 2018, Neuro-oncology.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.

V. Brouste, G. MacGrogan, N. Sevenet, 2022, Cancer genetics.

Alterations of the p53 and PIK3CA/AKT/mTOR pathways in angiosarcomas

C. Antonescu, J. Coindre, A. Italiano, 2012, Cancer.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.

O. Delattre, N. Sevenet, P. Schneider, 1999, American journal of human genetics.

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

V. Brouste, N. Sevenet, B. Gilbert-Dussardier, 2013, Journal of Medical Genetics.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

Comparative genomic hybridization detects specific cytogenetic abnormalities in pediatric ependymomas and choroid plexus papillomas.

C. Sainte-Rose, G. Vassal, J. Grill, 2002, Cancer genetics and cytogenetics.

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

P. Couzigou, N. Sevenet, E. Barouk-Simonet, 2017, European Journal of Human Genetics.

Comprehensive analysis of PTEN status in breast carcinomas

V. Brouste, G. MacGrogan, N. Sevenet, 2013, International journal of cancer.

Prostate cancer and PARP inhibitors: progress and challenges

I. Soubeyran, N. Sevenet, G. Roubaud, 2021, Journal of Hematology & Oncology.

Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis

M. Kool, D. Largaespada, S. Pfister, 2019, Cell stem cell.

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study

E. Letouzé, G. MacGrogan, N. Sevenet, 2017, Genes, chromosomes & cancer.

Validation of a yeast functional assay for p53 mutations using clonal sequencing

J. Bergh, H. Bonnefoi, R. Iggo, 2013, The Journal of pathology.

Characterization of a new brain-specific isoform of the EWS oncoprotein.

L. Dauphinot, T. Melot, N. Sevenet, 2001, European journal of biochemistry.

Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same

N. Sevenet, I. Winship, A. Trainer, 2018, Familial Cancer.

An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis

V. Brouste, I. de Mascarel, G. MacGrogan, 2012, BMC Medical Genomics.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition

N. Sevenet, J. Tinat, L. Venat-Bouvet, 2022, Journal of Human Genetics.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

A. Spurdle, N. Sevenet, C. Houdayer, 2019, BMC Genomics.

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

C. Coutant, N. Sevenet, C. Lepage, 2016, Oncotarget.

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

J. Lemonnier, N. Sevenet, D. Stoppa-Lyonnet, 2021, Cancers.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

L. Guerrini-Rousseau, N. Sevenet, T. Frebourg, 2017, Journal of Medical Genetics.

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Mads Thomassen, Nina Ditsch, Dieter Niederacher, 2009, Human molecular genetics.

Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression

R. Nussbaum, F. Couch, O. Olopade, 2016 .

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud, Dominique Vaur, Izabela Karbassi, 2016, Human mutation.

Correction: Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

Patricia Marino, Rajae Touzani, Lionel Perrier, 2018, European Journal of Human Genetics.

Production and characterization of mouse monoclonal antibodies to wild-type and oncogenic FLI-1 proteins.

T. Melot, N. Sevenet, O. Delattre, 1997, Hybridoma.

Genetic heterogeneity versus molecular analysis of prion susceptibility in neuroblasma N2a sublines

J. Laplanche, M. Stern, N. Sevenet, 2008, Archives of Virology.

Regulation of bone resorption and osteoclast survival by nitric oxide: Possible involvement of NMDA‐receptor

N. Sevenet, T. Tordjmann, R. Mentaverri, 2003, Journal of cellular biochemistry.

Gene profiling in human blood leucocytes during recovery from septic shock

N. Sevenet, J. Launay, D. Payen, 2008, Intensive Care Medicine.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

Concordance between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.

I. Soubeyran, I. Vergote, N. Sevenet, 2020, Journal of the National Cancer Institute.

Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same

N. Sevenet, I. Winship, A. Trainer, 2018, Familial Cancer.

In vivo antitumor activity of S16020, a topoisomerase II inhibitor, and doxorubicin against human brain tumor xenografts

Jacques Grill, Gilles Vassal, C. Sainte-Rose, 2003, Cancer Chemotherapy and Pharmacology.

DNA microarrays in clinical practice: past, present, and future

O. Cussenot, N. Sevenet, 2003, Clinical and Experimental Medicine.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Communications.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

Dramatic response to PARP inhibition in a PALB2-mutated breast cancer: moving beyond BRCA.

J. Blay, A. Italiano, N. Sevenet, 2020, Annals of Oncology.

Deletion of Chromosomes 13q and 14q Is a Common Feature of Tumors with BRCA2 Mutations

Gaëtan MacGrogan, Aurélien de Reyniès, E. Letouzé, 2012, PloS one.

Rhabdoid predisposition syndrome

N. Sevenet, 2011 .

Alterations of the p53 and PIK3CA/AKT/mTOR pathways in angiosarcomas

C. Antonescu, J. Coindre, A. Italiano, 2012, Cancer.

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

F. Couch, B. Bonanni, J. Benítez, 2009, Human molecular genetics.

Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

B. Bonanni, O. Olopade, B. Karlan, 2012 .

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic Acids Research.